In-Depth Phenotypic Description Of Pathogenic TBK1 Mutations; A Frequent Cause Of FTD And ALS In The Flanders-Belgian Population

Pathogenic mutations in TBK1 are a frequent cause of FTD, ALS and particularly of FTD plus ALS in the Flanders-Belgian population. The most common phenotypes were FTD (81.8% bvFTD, 18.2% PPA), ALS and unspecified dementia. Disease duration significantly correlated with clinical phenotype. Neuropathology showed FTLD-TDP type B.